2 doctors weighed in:

What are inborn errors of metabolism?

2 doctors weighed in
Dr. James Shoemaker
General Practice

In brief: PKU, Galactosemia

Phenylketonuria (pku) is one that is mentioned on soda containing aspartame.
Galactosemia is tested for in every newborn in the us, but many others have recently been added to the panel including mcad, lcad and lchad deficiencies, maple syrup urine disease, biotinidase deficiency, methylmalonic and propionic acidemia. One not currently screened for is ornithine transcarbamylase (otc) deficiency.

In brief: PKU, Galactosemia

Phenylketonuria (pku) is one that is mentioned on soda containing aspartame.
Galactosemia is tested for in every newborn in the us, but many others have recently been added to the panel including mcad, lcad and lchad deficiencies, maple syrup urine disease, biotinidase deficiency, methylmalonic and propionic acidemia. One not currently screened for is ornithine transcarbamylase (otc) deficiency.
Dr. James Shoemaker
Dr. James Shoemaker
Thank
Dr. Videh Mahajan
Internal Medicine

In brief: Metabolism

Gauchers disease.

In brief: Metabolism

Gauchers disease.
Dr. Videh Mahajan
Dr. Videh Mahajan
Thank
Read more answers from doctors